Elisa Biamino
Turin, Italy
Last Updated: 09/26/2026
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Found 36 publications
The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.
Journal: Human genetics
Published: November 21, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Journal: JAMA network open
Published: October 17, 2025
Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome.
Journal: Genes
Published: August 05, 2025
A novel spliceosomopathy caused by de novo SF3B3 variants.
Journal: Genome medicine
Published: April 26, 2025
Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping.
Journal: medRxiv : the preprint server for health sciences
Published: October 07, 2024
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.
Journal: Journal of the American Heart Association
Published: January 31, 2024
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 19, 2022
A novel COLEC10 mutation in a child with 3MC syndrome.
Journal: European journal of medical genetics
Published: May 06, 2021
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 06, 2021
Last Updated: 09/26/2026